====== Kabuki Syndrome ======
====Main Features====
  * Distinctive facial features
    * long palpebral fissures with eversion of the lateral 1/3 of lower eyelid
    * arched and broad eyebrows often with sparsness laterally 
    * short columella with depressed nasal tip 
    * large prominent cupped ears

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{{::faces-of-mll2-mutation-positive-patients-with-kabuki-syndrome-facial-appearance-of-12.png |}}
 From reference [4] 
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  * developmental delay and intellectual disability
  * Post natal growth deficiency
  * Skeletal anomalies 
  * Persistent fetal fingertip pads

====Eye Findings====
  * Everted lower eyelids
  * Found in about 1/3
    * Strabismus
    * Ptosis
    * Blue sclerae
    * Coloboma
    * Marcus Gunn jaw wink
    * Peters anomaly
  * More Rare
    * Optic nerve hypoplasia
    * colobomatous microphthalmia
    * anophthalmia
====Other Findings====
  * Congenital heart defects
  * GU anomalies
  * Cleft palate
  * Increased susceptibility to infections and autoimmune disorders
  * Immune thrombocytopenia 
====Etiology====
  * 75% from KMT2D gene mutations (autosomal dominant)
  * 8% from KDM6A gene mutations (X-linked dominant) 
  * rest unknown
====Resources====
  - [[https://pubmed.ncbi.nlm.nih.gov/30514738| Adam MP et al. Kabuki Syndrome: International Consensus Diagnostic Criteria. Journal of Medical Genetics. 2019;56(2):89-95.]]
  - [[https://www.ncbi.nlm.nih.gov/books/n/gene/kabuki/ |Adam MP et al. Kubuki Syndrome. GeneReviews]]
  - [[https://1drv.ms/b/c/31d83ae8e55e0542/EScVEzibkH9DmuwC53L8axkBSwScQtNUpf0BfXLLhLh_5A?e=BRWE4e | Panneerselvam S. et al. Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature. Ophthalmic Plast Reconstr Surg. 2025;41(3):e104-e106.]]
  - [[https://link.springer.com/article/10.1007/s00439-011-1004-y| Li, Yun et al (2011). A mutation screen in patients with Kabuki syndrome. Human Genetics. 2011;130:715-24.]]
{{tag>syndrome}}